CRYGB gene

Overview

Gene (OMIM No.)	CRYGB (#123670)
Function of gene/protein	Protein: crystallin gamma B (CRYGB) Lens-specific protein Highly organized, compact structures that contribute to the refractive index of the lens Interacts with other crystallins to maintain lens transparency
Clinical phenotype (OMIM phenotype no.)	Cataract 39, multiple types, autosomal dominant (#615188)
Inheritance	Autosomal dominant
Ocular features	Congenital cataracts (nuclear, posterior polar, or lamellar) Intrafamilial clinical heterogeneity observed
Systemic features	No extraocular features have been reported
Key investigations	B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities Electrophysiology TORCH screen Assessment with a paediatrician if suspicious of systemic involvement
Molecular diagnosis	Next generation sequencing Targeted gene panels (cataract) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of congenital cataract
Therapies under research	None at present
Further information	OMIM

AlFadhli S, Abdelmoaty S, Al-Hajeri A, Behbehani A, Alkuraya F. Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. Mol Vis. 2012;18:2931‐2936
Li L, Chang B, Cheng C, et al. Dense nuclear cataract caused by the gammaB-crystallin S11R point mutation. Invest Ophthalmol Vis Sci. 2008;49(1):304‐309
Shiloh Y, Donlon T, Bruns G, Breitman ML, Tsui LC. Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36. Hum Genet. 1986;73(1):17‐19

Updated on November 30, 2020